Mutagenetix > Incidental Mutation

Incidental Mutation 'R6395:Trank1'

514725

Institutional Source

Beutler Lab

Gene Symbol

Trank1

Ensembl Gene

ENSMUSG00000062296

Gene Name

tetratricopeptide repeat and ankyrin repeat containing 1

Synonyms

A230061D21Rik, LOC235639, C030048J01Rik, Lba1

Accession Numbers

Genbank: NM_001164659.1; Ensembl: ENSMUST00000078626

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111311739-111395775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111367200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1431 (I1431V)

Ref Sequence

ENSEMBL: ENSMUSP00000077697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078626]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078626
AA Change: I1431V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077697
Gene: ENSMUSG00000062296
AA Change: I1431V

Domain	Start	End	E-Value	Type
low complexity region	4	30	N/A	INTRINSIC
low complexity region	34	52	N/A	INTRINSIC
low complexity region	113	129	N/A	INTRINSIC
Blast:TPR	144	177	1e-15	BLAST
Blast:TPR	178	209	8e-13	BLAST
Blast:ANK	332	361	1e-6	BLAST
ANK	369	405	5.29e0	SMART
ANK	538	567	2.11e2	SMART
ANK	572	609	7.29e2	SMART
ANK	621	652	1.21e2	SMART
low complexity region	887	895	N/A	INTRINSIC
low complexity region	1152	1172	N/A	INTRINSIC
Blast:AAA	1351	1569	1e-6	BLAST
low complexity region	2166	2177	N/A	INTRINSIC
low complexity region	2395	2411	N/A	INTRINSIC
low complexity region	2636	2649	N/A	INTRINSIC
low complexity region	2966	2983	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.3%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092M07Rik	A	G	19: 8,741,098	D68G	probably benign	Het
Actc1	C	A	2: 114,049,250	E243*	probably null	Het
Ahi1	T	C	10: 20,979,592	I600T	possibly damaging	Het
Apob	A	G	12: 8,008,507	T2330A	probably benign	Het
BC067074	T	G	13: 113,369,469	C2377W	probably damaging	Het
Cabin1	A	T	10: 75,746,742	M280K	probably benign	Het
Ccdc117	T	C	11: 5,534,762		probably null	Het
Cct8	G	T	16: 87,486,476	Y292*	probably null	Het
Celf1	A	G	2: 91,003,858	I165V	probably benign	Het
Cenpc1	A	T	5: 86,035,570	N453K	probably benign	Het
Chst10	T	C	1: 38,871,689	I131M	probably damaging	Het
Cltc	A	G	11: 86,725,180	I420T	probably damaging	Het
Dact3	A	C	7: 16,883,161	Q95P	probably damaging	Het
Dennd2c	T	C	3: 103,149,224		probably null	Het
Dock2	G	T	11: 34,232,874	H1586Q	probably damaging	Het
Dst	T	C	1: 34,182,690	M2525T	probably benign	Het
Egflam	T	C	15: 7,231,695	H786R	probably damaging	Het
Eml6	T	C	11: 29,809,321	T811A	probably benign	Het
Epha1	T	C	6: 42,366,172	T148A	probably damaging	Het
Fsip1	A	C	2: 118,236,925	S306A	probably damaging	Het
Gga2	A	T	7: 122,008,438		probably null	Het
Gm10801	C	CGTT	2: 98,663,807		probably benign	Het
Gm12800	G	A	4: 101,909,992	R146H	probably benign	Het
Gm5724	T	A	6: 141,723,092		probably null	Het
Gm9837	T	A	11: 53,470,058		probably benign	Het
Gnl2	A	T	4: 125,046,265	Q310L	probably damaging	Het
H2-M1	T	C	17: 36,671,809	D53G	probably benign	Het
Hmcn2	T	A	2: 31,369,257	D1036E	probably damaging	Het
Htr3a	A	T	9: 48,900,571	D381E	probably benign	Het
Igdcc4	G	A	9: 65,135,118	G106R	probably damaging	Het
Igfbp2	A	G	1: 72,824,919	T114A	probably damaging	Het
Ints14	A	G	9: 64,978,124		probably null	Het
Kcnt1	T	A	2: 25,909,239	M906K	possibly damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lars2	A	G	9: 123,371,925	Q18R	probably benign	Het
Mndal	C	T	1: 173,871,433	C222Y	possibly damaging	Het
Msto1	C	T	3: 88,905,474	A1854V	possibly damaging	Het
Musk	G	A	4: 58,286,169	G20R	probably benign	Het
Olfr811	G	T	10: 129,802,144	P127Q	probably damaging	Het
Oxct1	G	T	15: 4,026,827	S19I	possibly damaging	Het
Papss2	G	A	19: 32,664,476	G517D	probably damaging	Het
Parp14	T	C	16: 35,856,548	S1017G	probably benign	Het
Pde2a	A	G	7: 101,501,035	Q227R	probably benign	Het
Pdlim5	G	T	3: 142,314,422	P92Q	probably damaging	Het
Pkd1l3	C	T	8: 109,623,963	T480I	probably benign	Het
Pla2g4c	C	T	7: 13,344,008	T357I	probably benign	Het
Ppp3ca	A	G	3: 136,877,770	R213G	possibly damaging	Het
Prrc1	C	T	18: 57,362,547	S32L	probably null	Het
Prss47	C	T	13: 65,049,302	V207I	probably benign	Het
Prtg	G	A	9: 72,912,132	V1136I	possibly damaging	Het
Psmb8	T	A	17: 34,199,291	M69K	possibly damaging	Het
Rb1	A	T	14: 73,199,196	D876E	probably damaging	Het
Rnasel	T	C	1: 153,762,121	M680T	probably damaging	Het
Rnf111	G	T	9: 70,476,410	N80K	possibly damaging	Het
Senp1	C	T	15: 98,048,193	C557Y	probably damaging	Het
Serpina3a	A	T	12: 104,116,451	Y161F	probably damaging	Het
Serpinb11	A	T	1: 107,372,051		probably null	Het
Sgpl1	C	A	10: 61,112,157		probably null	Het
Slc37a4	A	G	9: 44,399,279	Y60C	probably damaging	Het
Slc38a10	A	G	11: 120,124,382	S381P	probably benign	Het
Slc5a7	C	T	17: 54,278,821	V323I	probably damaging	Het
Smarcal1	A	T	1: 72,616,557	E665V	possibly damaging	Het
Specc1	C	A	11: 62,132,338	N736K	probably damaging	Het
Tas2r121	T	C	6: 132,700,532	Y159C	probably benign	Het
Ttll6	T	C	11: 96,156,588	V671A	probably benign	Het
Ttn	A	T	2: 76,918,587		probably benign	Het
Uimc1	T	C	13: 55,040,576	T557A	possibly damaging	Het
Uri1	C	A	7: 37,962,549	V446L	probably benign	Het
Vpreb2	C	T	16: 17,980,907	R86C	probably damaging	Het
Vwa8	A	G	14: 79,093,744	K1231E	probably benign	Het
Xcr1	G	A	9: 123,855,789	R303C	probably damaging	Het
Zfp619	C	A	7: 39,537,030	A828E	possibly damaging	Het
Zfp687	T	C	3: 95,007,738	S1151G	possibly damaging	Het

Other mutations in Trank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Trank1	APN	9	111392609	missense	probably damaging	1.00
IGL00467:Trank1	APN	9	111364666	splice site	probably benign
IGL00569:Trank1	APN	9	111345511	missense	possibly damaging	0.69
IGL00585:Trank1	APN	9	111349290	missense	possibly damaging	0.82
IGL01070:Trank1	APN	9	111366793	missense	probably damaging	1.00
IGL01134:Trank1	APN	9	111391781	missense	probably benign
IGL01154:Trank1	APN	9	111386400	missense	probably benign	0.00
IGL01355:Trank1	APN	9	111365520	missense	possibly damaging	0.94
IGL01407:Trank1	APN	9	111364722	missense	probably damaging	0.99
IGL01410:Trank1	APN	9	111365049	missense	probably benign	0.00
IGL01410:Trank1	APN	9	111365259	missense	probably benign	0.00
IGL01504:Trank1	APN	9	111373544	missense	probably damaging	1.00
IGL01744:Trank1	APN	9	111349363	missense	probably damaging	1.00
IGL02043:Trank1	APN	9	111363960	missense	probably damaging	0.98
IGL02104:Trank1	APN	9	111390712	missense	possibly damaging	0.85
IGL02193:Trank1	APN	9	111367276	missense	probably benign	0.43
IGL02581:Trank1	APN	9	111383125	missense	probably benign	0.00
IGL02630:Trank1	APN	9	111373075	missense	possibly damaging	0.70
IGL02839:Trank1	APN	9	111364756	missense	probably damaging	1.00
IGL02897:Trank1	APN	9	111367517	missense	probably damaging	0.99
IGL03065:Trank1	APN	9	111390293	missense	possibly damaging	0.64
IGL03123:Trank1	APN	9	111367407	missense	probably damaging	1.00
IGL03143:Trank1	APN	9	111366087	missense	probably damaging	1.00
IGL03323:Trank1	APN	9	111352116	missense	probably damaging	1.00
1mM(1):Trank1	UTSW	9	111392981	missense	probably damaging	1.00
PIT4486001:Trank1	UTSW	9	111390107	missense	probably damaging	1.00
PIT4812001:Trank1	UTSW	9	111347912	missense	probably damaging	1.00
R0035:Trank1	UTSW	9	111366776	missense	probably benign	0.00
R0064:Trank1	UTSW	9	111343195	missense	probably damaging	1.00
R0064:Trank1	UTSW	9	111343195	missense	probably damaging	1.00
R0089:Trank1	UTSW	9	111392910	missense	probably benign	0.00
R0207:Trank1	UTSW	9	111366253	missense	probably damaging	1.00
R0255:Trank1	UTSW	9	111366024	missense	possibly damaging	0.92
R0334:Trank1	UTSW	9	111365353	missense	probably benign	0.00
R0334:Trank1	UTSW	9	111392940	missense	probably damaging	1.00
R0383:Trank1	UTSW	9	111391477	missense	probably benign	0.08
R0421:Trank1	UTSW	9	111391839	missense	probably damaging	1.00
R0494:Trank1	UTSW	9	111391293	missense	probably benign	0.19
R0518:Trank1	UTSW	9	111333808	missense	probably damaging	1.00
R0560:Trank1	UTSW	9	111391086	missense	possibly damaging	0.88
R0637:Trank1	UTSW	9	111390441	missense	probably damaging	1.00
R0731:Trank1	UTSW	9	111365488	missense	probably damaging	1.00
R0761:Trank1	UTSW	9	111366613	missense	probably damaging	1.00
R0766:Trank1	UTSW	9	111347469	missense	probably benign	0.45
R0827:Trank1	UTSW	9	111349417	unclassified	probably benign
R1005:Trank1	UTSW	9	111333721	missense	probably benign	0.13
R1108:Trank1	UTSW	9	111365307	missense	probably benign	0.00
R1155:Trank1	UTSW	9	111366970	missense	possibly damaging	0.95
R1470:Trank1	UTSW	9	111343232	missense	possibly damaging	0.91
R1470:Trank1	UTSW	9	111343232	missense	possibly damaging	0.91
R1596:Trank1	UTSW	9	111366290	missense	possibly damaging	0.93
R1601:Trank1	UTSW	9	111373477	missense	probably damaging	1.00
R1751:Trank1	UTSW	9	111391479	missense	probably benign
R1754:Trank1	UTSW	9	111392871	missense	probably benign	0.00
R1767:Trank1	UTSW	9	111391479	missense	probably benign
R1768:Trank1	UTSW	9	111392927	missense	probably damaging	0.96
R1809:Trank1	UTSW	9	111392825	missense	probably benign	0.34
R1912:Trank1	UTSW	9	111390709	missense	probably benign	0.00
R1920:Trank1	UTSW	9	111347928	critical splice donor site	probably null
R1960:Trank1	UTSW	9	111391628	missense	probably damaging	1.00
R1993:Trank1	UTSW	9	111378832	missense	probably benign	0.20
R2012:Trank1	UTSW	9	111365028	missense	probably benign
R2025:Trank1	UTSW	9	111392039	missense	probably benign	0.01
R2050:Trank1	UTSW	9	111364788	missense	probably damaging	1.00
R2857:Trank1	UTSW	9	111366933	missense	probably benign	0.00
R2912:Trank1	UTSW	9	111392483	missense	probably damaging	0.98
R2962:Trank1	UTSW	9	111352080	missense	probably damaging	1.00
R3030:Trank1	UTSW	9	111391530	missense	possibly damaging	0.63
R3821:Trank1	UTSW	9	111378819	missense	probably damaging	1.00
R3822:Trank1	UTSW	9	111378819	missense	probably damaging	1.00
R3892:Trank1	UTSW	9	111364759	missense	probably benign	0.03
R4105:Trank1	UTSW	9	111352197	missense	probably damaging	1.00
R4166:Trank1	UTSW	9	111373524	nonsense	probably null
R4237:Trank1	UTSW	9	111367035	missense	probably benign	0.04
R4239:Trank1	UTSW	9	111367035	missense	probably benign	0.04
R4394:Trank1	UTSW	9	111365197	missense	possibly damaging	0.86
R4417:Trank1	UTSW	9	111365968	missense	probably benign	0.17
R4611:Trank1	UTSW	9	111362261	missense	probably damaging	1.00
R4694:Trank1	UTSW	9	111392061	missense	probably benign	0.40
R4731:Trank1	UTSW	9	111390410	missense	probably damaging	1.00
R4843:Trank1	UTSW	9	111366078	missense	probably benign	0.00
R4852:Trank1	UTSW	9	111391895	missense	possibly damaging	0.68
R4859:Trank1	UTSW	9	111365010	missense	probably benign	0.17
R4868:Trank1	UTSW	9	111365641	missense	probably damaging	1.00
R5080:Trank1	UTSW	9	111389221	missense	probably damaging	0.99
R5156:Trank1	UTSW	9	111390694	missense	probably damaging	1.00
R5174:Trank1	UTSW	9	111365559	missense	probably benign	0.00
R5234:Trank1	UTSW	9	111386467	missense	probably damaging	1.00
R5386:Trank1	UTSW	9	111362402	missense	probably benign	0.12
R5419:Trank1	UTSW	9	111391301	missense	probably damaging	1.00
R5435:Trank1	UTSW	9	111391890	missense	probably benign	0.00
R5444:Trank1	UTSW	9	111392958	missense	probably benign	0.04
R5543:Trank1	UTSW	9	111366112	missense	probably damaging	0.97
R5560:Trank1	UTSW	9	111390567	missense	probably damaging	1.00
R5772:Trank1	UTSW	9	111366676	missense	possibly damaging	0.86
R5774:Trank1	UTSW	9	111391226	missense	probably damaging	1.00
R5843:Trank1	UTSW	9	111365860	missense	possibly damaging	0.59
R5858:Trank1	UTSW	9	111392536	missense	probably benign
R5878:Trank1	UTSW	9	111366685	missense	possibly damaging	0.93
R5900:Trank1	UTSW	9	111391716	missense	probably damaging	1.00
R5917:Trank1	UTSW	9	111362417	missense	probably benign	0.38
R5954:Trank1	UTSW	9	111365133	missense	probably benign	0.13
R6041:Trank1	UTSW	9	111377796	missense	possibly damaging	0.94
R6112:Trank1	UTSW	9	111391737	missense	probably damaging	1.00
R6165:Trank1	UTSW	9	111391872	missense	probably benign	0.00
R6255:Trank1	UTSW	9	111352246	critical splice donor site	probably null
R6567:Trank1	UTSW	9	111347521	missense	probably benign	0.02
R6644:Trank1	UTSW	9	111364834	missense	possibly damaging	0.85
R6724:Trank1	UTSW	9	111365916	missense	probably damaging	1.00
R6788:Trank1	UTSW	9	111390679	missense	probably damaging	1.00
R6831:Trank1	UTSW	9	111377899	missense	probably benign	0.00
R6934:Trank1	UTSW	9	111373090	missense	probably damaging	0.99
R7127:Trank1	UTSW	9	111365796	missense	possibly damaging	0.85
R7206:Trank1	UTSW	9	111345515	critical splice donor site	probably null
R7236:Trank1	UTSW	9	111373074	missense	possibly damaging	0.93
R7247:Trank1	UTSW	9	111367512	missense	probably damaging	1.00
R7292:Trank1	UTSW	9	111377870	missense	probably benign	0.02
R7310:Trank1	UTSW	9	111367126	missense	probably damaging	1.00
R7431:Trank1	UTSW	9	111362402	missense	probably benign	0.12
R7448:Trank1	UTSW	9	111366349	missense	probably benign	0.01
R7477:Trank1	UTSW	9	111364957	missense	probably benign	0.00
R7514:Trank1	UTSW	9	111364756	missense	probably damaging	1.00
R7595:Trank1	UTSW	9	111365991	missense	probably damaging	1.00
R7637:Trank1	UTSW	9	111365296	missense	possibly damaging	0.71
R7648:Trank1	UTSW	9	111391685	missense	probably benign
R7737:Trank1	UTSW	9	111366012	nonsense	probably null
R7784:Trank1	UTSW	9	111364103	missense	probably damaging	1.00
R7884:Trank1	UTSW	9	111392516	missense	probably benign
R7912:Trank1	UTSW	9	111391528	missense	probably benign	0.04
R7938:Trank1	UTSW	9	111365028	missense	probably benign
R7979:Trank1	UTSW	9	111377899	missense	probably benign	0.00
R8064:Trank1	UTSW	9	111352076	nonsense	probably null
R8100:Trank1	UTSW	9	111392793	missense	probably damaging	1.00
R8124:Trank1	UTSW	9	111378927	missense	probably benign	0.31
R8198:Trank1	UTSW	9	111390812	missense	probably benign	0.09
R8219:Trank1	UTSW	9	111364909	missense	probably damaging	1.00
R8223:Trank1	UTSW	9	111365889	missense	probably damaging	1.00
R8316:Trank1	UTSW	9	111349302	missense	probably benign	0.38
R8347:Trank1	UTSW	9	111367249	missense	probably damaging	1.00
R8436:Trank1	UTSW	9	111391382	missense	possibly damaging	0.86
R8489:Trank1	UTSW	9	111390275	missense	probably benign	0.01
R8682:Trank1	UTSW	9	111365344	missense	probably benign	0.01
R8768:Trank1	UTSW	9	111389276	missense	probably benign	0.00
R8770:Trank1	UTSW	9	111390824	missense	probably benign	0.00
R8829:Trank1	UTSW	9	111347523	missense	probably benign
R8838:Trank1	UTSW	9	111364905	missense	probably benign	0.03
R8855:Trank1	UTSW	9	111312221	missense	unknown
R8929:Trank1	UTSW	9	111378935	missense	possibly damaging	0.93
R9047:Trank1	UTSW	9	111362432	missense	probably damaging	0.99
R9090:Trank1	UTSW	9	111345479	missense	probably damaging	1.00
R9114:Trank1	UTSW	9	111333775	missense	probably damaging	1.00
R9133:Trank1	UTSW	9	111391702	missense	possibly damaging	0.93
R9177:Trank1	UTSW	9	111392511	missense	probably benign	0.00
R9178:Trank1	UTSW	9	111367200	missense	probably damaging	1.00
R9271:Trank1	UTSW	9	111345479	missense	probably damaging	1.00
R9314:Trank1	UTSW	9	111365981	missense	probably damaging	1.00
R9373:Trank1	UTSW	9	111365191	missense	probably benign	0.25
R9380:Trank1	UTSW	9	111392670	missense	probably benign	0.07
R9435:Trank1	UTSW	9	111364822	missense	probably benign	0.04
R9501:Trank1	UTSW	9	111347875	missense	probably benign	0.00
R9593:Trank1	UTSW	9	111362297	missense	probably benign	0.30
X0064:Trank1	UTSW	9	111343236	missense	possibly damaging	0.57
Z1088:Trank1	UTSW	9	111364710	missense	probably damaging	0.99
Z1177:Trank1	UTSW	9	111311902	missense	unknown
Z1177:Trank1	UTSW	9	111367377	missense	possibly damaging	0.83
Z1177:Trank1	UTSW	9	111392870	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TCAAAGGGAGAAGTTCCTACAACC -3'
(R):5'- TGGGCAGTGTCTCCAGTAAG -3'

Sequencing Primer
(F):5'- ACCCAGCACTGATTTGGAAAG -3'
(R):5'- TCCAGTAAGGAACATGGCGTTG -3'

Posted On

2018-05-04